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RPS19 (ribosomal protein S19)

Identity

Alias_symbol (synonym)DBA
S19
HGNC (Hugo) RPS19
LocusID (NCBI) 6223
Atlas_Id 177
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 42363988 and ends at 42375484 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PLD1 (3q26.31) / RPS19 (19q13.2)RPS14 (5q33.1) / RPS19 (19q13.2)RPS19 (19q13.2) / DCAF8 (1q23.2)
RPS19 (19q13.2) / DMRTC2 (19q13.2)RPS19 (19q13.2) / HNRNPUL1 (19q13.2)RPS19 (19q13.2) / RPS4Y1 (Yp11.31)
RPS19 19q13.2 / DMRTC2 19q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(5q) in myeloid neoplasms


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Diamond-Blackfan anemia (DBA)


External links

Nomenclature
HGNC (Hugo)RPS19   10402
Cards
Entrez_Gene (NCBI)RPS19  6223  ribosomal protein S19
AliasesDBA; DBA1; S19
GeneCards (Weizmann)RPS19
Ensembl hg19 (Hinxton)ENSG00000105372 [Gene_View]  chr19:42363988-42375484 [Contig_View]  RPS19 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105372 [Gene_View]  chr19:42363988-42375484 [Contig_View]  RPS19 [Vega]
ICGC DataPortalENSG00000105372
TCGA cBioPortalRPS19
AceView (NCBI)RPS19
Genatlas (Paris)RPS19
WikiGenes6223
SOURCE (Princeton)RPS19
Genetics Home Reference (NIH)RPS19
Genomic and cartography
GoldenPath hg19 (UCSC)RPS19  -     chr19:42363988-42375484 +  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RPS19  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblRPS19 - 19q13.2 [CytoView hg19]  RPS19 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIRPS19 [Mapview hg19]  RPS19 [Mapview hg38]
OMIM105650   603474   
Gene and transcription
Genbank (Entrez)AA165492 AK311786 BC000023 BC007615 BC017386
RefSeq transcript (Entrez)NM_001022 NM_001321483 NM_001321484 NM_001321485
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_007080 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)RPS19
Cluster EST : UnigeneHs.438429 [ NCBI ]
CGAP (NCI)Hs.438429
Alternative Splicing GalleryENSG00000105372
Gene ExpressionRPS19 [ NCBI-GEO ]   RPS19 [ EBI - ARRAY_EXPRESS ]   RPS19 [ SEEK ]   RPS19 [ MEM ]
Gene Expression Viewer (FireBrowse)RPS19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6223
GTEX Portal (Tissue expression)RPS19
Protein : pattern, domain, 3D structure
UniProt/SwissProtP39019   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP39019  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP39019
Splice isoforms : SwissVarP39019
PhosPhoSitePlusP39019
Domaine pattern : Prosite (Expaxy)RIBOSOMAL_S19E (PS00628)   
Domains : Interpro (EBI)Ribosomal_S19e    Ribosomal_S19e_CS    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Ribosomal_S19e (PF01090)   
Domain families : Pfam (NCBI)pfam01090   
Domain structure : Prodom (Prabi Lyon)Ribosomal_S19e (PD003854)   
Conserved Domain (NCBI)RPS19
DMDM Disease mutations6223
Blocks (Seattle)RPS19
PDB (SRS)4UG0    4V6X    5A2Q    5AJ0    5FLX   
PDB (PDBSum)4UG0    4V6X    5A2Q    5AJ0    5FLX   
PDB (IMB)4UG0    4V6X    5A2Q    5AJ0    5FLX   
PDB (RSDB)4UG0    4V6X    5A2Q    5AJ0    5FLX   
Structural Biology KnowledgeBase4UG0    4V6X    5A2Q    5AJ0    5FLX   
SCOP (Structural Classification of Proteins)4UG0    4V6X    5A2Q    5AJ0    5FLX   
CATH (Classification of proteins structures)4UG0    4V6X    5A2Q    5AJ0    5FLX   
SuperfamilyP39019
Human Protein AtlasENSG00000105372
Peptide AtlasP39019
HPRD04591
IPIIPI00215780   
Protein Interaction databases
DIP (DOE-UCLA)P39019
IntAct (EBI)P39019
FunCoupENSG00000105372
BioGRIDRPS19
STRING (EMBL)RPS19
ZODIACRPS19
Ontologies - Pathways
QuickGOP39019
Ontology : AmiGOribosomal small subunit assembly  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  monocyte chemotaxis  structural constituent of ribosome  protein binding  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  ribosome  focal adhesion  rRNA processing  rRNA processing  translation  translational initiation  SRP-dependent cotranslational protein targeting to membrane  nucleolus organization  Notch signaling pathway  response to extracellular stimulus  membrane  fibroblast growth factor binding  viral transcription  protein kinase binding  cytosolic small ribosomal subunit  erythrocyte differentiation  maturation of SSU-rRNA  ribosomal small subunit biogenesis  protein homodimerization activity  poly(A) RNA binding  protein tetramerization  positive regulation of cellular component movement  positive regulation of respiratory burst involved in inflammatory response  negative regulation of respiratory burst involved in inflammatory response  extracellular exosome  
Ontology : EGO-EBIribosomal small subunit assembly  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  monocyte chemotaxis  structural constituent of ribosome  protein binding  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  ribosome  focal adhesion  rRNA processing  rRNA processing  translation  translational initiation  SRP-dependent cotranslational protein targeting to membrane  nucleolus organization  Notch signaling pathway  response to extracellular stimulus  membrane  fibroblast growth factor binding  viral transcription  protein kinase binding  cytosolic small ribosomal subunit  erythrocyte differentiation  maturation of SSU-rRNA  ribosomal small subunit biogenesis  protein homodimerization activity  poly(A) RNA binding  protein tetramerization  positive regulation of cellular component movement  positive regulation of respiratory burst involved in inflammatory response  negative regulation of respiratory burst involved in inflammatory response  extracellular exosome  
Pathways : KEGGRibosome   
NDEx NetworkRPS19
Atlas of Cancer Signalling NetworkRPS19
Wikipedia pathwaysRPS19
Orthology - Evolution
OrthoDB6223
GeneTree (enSembl)ENSG00000105372
Phylogenetic Trees/Animal Genes : TreeFamRPS19
HOVERGENP39019
HOGENOMP39019
Homologs : HomoloGeneRPS19
Homology/Alignments : Family Browser (UCSC)RPS19
Gene fusions - Rearrangements
Fusion : MitelmanRPS19/DMRTC2 [19q13.2/19q13.2]  
Fusion: TCGARPS19 19q13.2 DMRTC2 19q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPS19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPS19
dbVarRPS19
ClinVarRPS19
1000_GenomesRPS19 
Exome Variant ServerRPS19
ExAC (Exome Aggregation Consortium)RPS19 (select the gene name)
Genetic variants : HAPMAP6223
Genomic Variants (DGV)RPS19 [DGVbeta]
DECIPHER (Syndromes)19:42363988-42375484  ENSG00000105372
CONAN: Copy Number AnalysisRPS19 
Mutations
ICGC Data PortalRPS19 
TCGA Data PortalRPS19 
Broad Tumor PortalRPS19
OASIS PortalRPS19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPS19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPS19
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)Diamond-Blackfan Anemia
BioMutasearch RPS19
DgiDB (Drug Gene Interaction Database)RPS19
DoCM (Curated mutations)RPS19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPS19 (select a term)
intoGenRPS19
Cancer3DRPS19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105650    603474   
Orphanet429   
MedgenRPS19
Genetic Testing Registry RPS19
NextProtP39019 [Medical]
TSGene6223
GENETestsRPS19
Huge Navigator RPS19 [HugePedia]
snp3D : Map Gene to Disease6223
BioCentury BCIQRPS19
ClinGenRPS19 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6223
Chemical/Pharm GKB GenePA34803
Clinical trialRPS19
Miscellaneous
canSAR (ICR)RPS19 (select the gene name)
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPS19
EVEXRPS19
GoPubMedRPS19
iHOPRPS19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:50:20 CET 2016

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